42 related articles for article (PubMed ID: 19668078)
1. A large family with CYLD cutaneous syndrome: medical genetics at the community level.
Arruda AP; Cardoso-Dos-Santos AC; Mariath LM; Feira MF; Kowalski TW; Bezerra KRF; da Silva LACT; Ribeiro EM; Schuler-Faccini L
J Community Genet; 2020 Jul; 11(3):279-284. PubMed ID: 31792733
[TBL] [Abstract][Full Text] [Related]
2. Facial nerve and parotid gland involvement in Brooke-Spiegler syndrome.
Nguyen K; Fielding CG
Int J Dermatol; 2024 May; ():. PubMed ID: 38773814
[No Abstract] [Full Text] [Related]
3. Novel
Nakama M; Sasai H; Kubota M; Hasegawa Y; Fujiki R; Okuyama T; Ohara O; Fukao T
Hum Genome Var; 2020; 7():10. PubMed ID: 32257295
[TBL] [Abstract][Full Text] [Related]
4. Exophytic growth on nasal ala.
Casale F; Elwood HR; Tchanque-Fossuo CN
JAAD Case Rep; 2022 Jan; 19():48-50. PubMed ID: 34917724
[No Abstract] [Full Text] [Related]
5. A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature.
Brambullo T; De Lazzari A; Franchi A; Trevisson E; Garau ML; Scarmozzino F; Vindigni V; Bassetto F
J Clin Med; 2024 Apr; 13(8):. PubMed ID: 38673513
[TBL] [Abstract][Full Text] [Related]
6. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP; Wilton SD; Fletcher S
Front Genet; 2021; 12():806946. PubMed ID: 35140743
[TBL] [Abstract][Full Text] [Related]
7. Genetic Testing in CYLD Cutaneous Syndrome: An Update.
Nagy N; Dubois A; Szell M; Rajan N
Appl Clin Genet; 2021; 14():427-444. PubMed ID: 34744449
[TBL] [Abstract][Full Text] [Related]
8. Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.
Arefi M; Wilson V; Muthiah S; Zwolinski S; Bajwa D; Brennan P; Blasdale K; Bourn D; Burn J; Santibanez-Koref M; Rajan N
J Am Acad Dermatol; 2019 Dec; 81(6):1300-1307. PubMed ID: 31085270
[TBL] [Abstract][Full Text] [Related]
9. Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.
Kazakov DV
Head Neck Pathol; 2016 Jun; 10(2):125-30. PubMed ID: 26971504
[TBL] [Abstract][Full Text] [Related]
10. The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Farkas K; Deák BK; Sánchez LC; Martínez AM; Corell JJ; Botella AM; Benito GM; López RR; Vanecek T; Kazakov DV; Kromosoeto JN; van den Ouweland AM; Varga J; Széll M; Nagy N
BMC Genet; 2016 Feb; 17():36. PubMed ID: 26861065
[TBL] [Abstract][Full Text] [Related]
11. Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
van den Ouweland AM; Elfferich P; Lamping R; van de Graaf R; van Veghel-Plandsoen MM; Franken SM; Houweling AC
Fam Cancer; 2011 Mar; 10(1):127-32. PubMed ID: 20972631
[TBL] [Abstract][Full Text] [Related]
12. Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.
Grossmann P; Vanecek T; Steiner P; Kacerovska D; Spagnolo DV; Cribier B; Rose C; Vazmitel M; Carlson JA; Emberger M; Martinek P; Pearce RL; Pearn J; Michal M; Kazakov DV
Am J Dermatopathol; 2013 Feb; 35(1):34-44. PubMed ID: 23249834
[TBL] [Abstract][Full Text] [Related]
13. Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.
Zhang G; Huang Y; Yan K; Li W; Fan X; Liang Y; Sun L; Li H; Zhang S; Gao M; Du W; Yang S; Liu J; Zhang X
Exp Dermatol; 2006 Dec; 15(12):966-70. PubMed ID: 17083363
[TBL] [Abstract][Full Text] [Related]
14. [Brooke-Spiegler syndrome: an heterogeneous entity].
Mataix J; Bañuls J; Botella R; Laredo C; Lucas A
Actas Dermosifiliogr; 2006 Dec; 97(10):669-72. PubMed ID: 17173833
[TBL] [Abstract][Full Text] [Related]
15. Inherited cylindromas: lessons from a rare tumour.
Rajan N; Ashworth A
Lancet Oncol; 2015 Sep; 16(9):e460-e469. PubMed ID: 26370355
[TBL] [Abstract][Full Text] [Related]
16. A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology.
Kazakov DV; Thoma-Uszynski S; Vanecek T; Kacerovska D; Grossmann P; Michal M
Am J Dermatopathol; 2009 Oct; 31(7):664-73. PubMed ID: 19668078
[TBL] [Abstract][Full Text] [Related]
17. Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors.
Kazakov DV; Schaller J; Vanecek T; Kacerovska D; Michal M
J Cutan Pathol; 2010 Aug; 37(8):886-90. PubMed ID: 20132422
[TBL] [Abstract][Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
